THE SMALL THINGS
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Have you ever treated or lived with a condition so rare it seemed no one else understood it? With thousands of ultra-rare genetic disorders in existence, they're paradoxically more common than most realise. In The Small Things: Listen, Care, Diagnose, Jayne Hughes BEM shares the powerful story of her daughter Amy, who was born with Cockayne Syndrome, a rare DNA repair disorder. Through Amy's life, from her first diagnosis to the creation of a specialist clinic, Jayne brings together the voices of parents, scientists, and world-leading clinicians to illuminate how small changes in understanding...
Have you ever treated or lived with a condition so rare it seemed no one else understood it? With thousands of ultra-rare genetic disorders in existence, they're paradoxically more common than most realise. In The Small Things: Listen, Care, Diagnose, Jayne Hughes BEM shares the powerful story of her daughter Amy, who was born with Cockayne Syndrome, a rare DNA repair disorder. Through Amy's life, from her first diagnosis to the creation of a specialist clinic, Jayne brings together the voices of parents, scientists, and world-leading clinicians to illuminate how small changes in understanding and compassion can transform medical care. Part memoir, part clinical guide, The Small Things bridges the gap between families and the healthcare system. It offers:Real-world insight into the challenges of diagnosing and managing ultra-rare genetic disorders. Lessons for clinicians, students, and allied health professionals on holistic, patient-centred care. A rare look into the resilience, humour, and love that sustain families navigating the unknown. Written with honesty, warmth, and clarity, Jayne's story shows how empathy and listening; the "small things" can make the greatest difference. Whether you're a medical professional, a parent, or simply someone who believes in better healthcare for all, The Small Things is an unforgettable journey through courage, care, and connection.
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